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Can't wait to see you all soon in St. Lou! Here you will find the detailed agenda for the Conference (you will also get a copy in your program book upon checking in at the Community Connections reception on Friday at 2PM).For more information about the Conference, click here. Any questions, please email info@mtm-cnm.org

​You may have seen some news recently about Zolgensma, a gene therapy that just got approval from the FDA for use in patients with Type 1 Spinal Muscular Atrophy (SMA). It’s disappointing, but not surprising, that most of the headlines are exclaiming the cost of the treatment ($2.1 million). Consumer news sources and media are trying to get your attention, and usually amplify the hype without necessarily providing much actual insight. Here are a few thoughts to consider, especially when extrapolating to gene therapy or similar for MTM/CNM…

1) Type 1 SMA is an early-onset, relatively rapid progression that irreversibly destroys the motor neurons. After about age 2 the damage is severe, requiring extensive intervention and support and generally fatal over time, though supportive technology such as mechanical ventilation can help, much like with MTM. This gene therapy stops the progression of SMA, but cannot undo damage that has been done. Therefore, the approval today was only for patients under age 2. This underscores the importance of early accurate genetic diagnosis. MTM, in contrast, generally does not destroy the muscle tissue over time. Rather, the missing myotubularin acts a bit like a “key” that unlocks the existing muscle machinery. While it is yet to be proven in human patients, it is hoped that all age ranges would benefit from gene therapy for MTM. Importantly though, there are other long-term effects of lack of muscle strength, such as joint contractures, that may be more challenging to address in older patients even if muscle strength was restored.

2) Novartis has estimated the cost of medical care for someone with SMA to be about $4M for a span of 10 years. From an insurance/payers perspective, the $2.1M “price tag” for the gene therapy should be understood relative to the expected benefits. It is a single-dose treatment, one and done. If administered early enough (aka under 2 years old) it is reasonable to expect that the $4M in costs are avoided, hence a “savings” of about $2M over 10 years. Note – this can start to sound like putting a value on a human life, which is an abhorrent concept, but it really is just about setting a reasonable price for the drug, compared to the costs of alternative care. Steven Pearson, President of the Institute for Clinical and Economic Review (ICER) said, “Insurers were going to cover Zolgensma no matter the price, and Novartis has spoken publicly about considering prices that approached $5 million. It is a positive outcome for patients and the entire health system that Novartis instead chose to price Zolgensma at a level that more fairly aligns with the benefits for these children and their families.”

3) Novartis is offering insurers a payment plan ($425K per year for 5 years), which is an attempt to address the real challenge of how to pay for a treatment like this that is so different from just about any other medical treatment available today. As the field of gene therapy progresses, these types of alternative payment models will be needed, and this is an area of much work for shaping new public policy and legislation. The patient & family voice is needed here as well!

4) The development of a gene therapy product takes several years and many many millions of dollars. The sponsoring company has to foot the bill – often underwritten by investors, private or public, who take on the financial risk given that most drug development efforts never get approved. The first Phase 1 clinical trial for Zolgensma (called AVXS-101 at the time) began in 2014, so that is about 5 years worth of expensive clinical trials and other development, manufacturing, and regulatory activities (not to mention pre-clinical work) without a single penny in sales. Eventually, these development costs need to be paid back by successfully marketing a product. For MTM, Audentes initiated their Phase 1/2 clinical trial “ASPIRO” with the first patient dosed in September 2017, about 1.5 years ago. While each development timeline and approval pathway is unique and we can’t really connect SMA and MTM, it is generally an encouraging sign that the FDA has granted approval for Zolgensma, and that a novel payment approach is being implemented. We can certainly continue to hope that the data published so far for ASPIRO will be reinforced by future positive results, leading to expedited approval and access for all who need it.

As potential treatments for rare diseases such as XLMTM are being developed, it is essential that when and if they are approved for clinical use that they will also be accessible by all the patients that need them. Current pricing and reimbursement models would be a major obstacle, especially for single-dose treatments that have cost hundreds of millions of dollars to develop.

U.S. Senator Bill Cassidy, M.D. (R-LA), and Senator Mark Warner (D-VA) on Jan. 29th released a draft version of the Patient Affordability, Value and Efficiency Act. This bipartisan legislation aims to facilitate new and innovative payment models for pharmaceuticals and other medical services so that patients have better access to treatment, the health care market is more efficient, and drug prices are more affordable.

Yesterday, Audentes Therapeutics provided a quarterly company update, including information on their lead program - clinical development of AT132, a gene therapy product targeting X-Linked Myotubular Myopathy (XLMTM). Their Phase 1/2 clinical trial, called "ASPIRO", is well underway, and they state:

"...we have recently completed enrollment of the Cohort 2 dose of 3x1014 vg/kg, including three treated patients and one untreated control patient. We look forward to engaging with the FDA and EMA in the coming weeks to discuss development plans and the potential registration pathway for AT132, and to advance our goal of making this important treatment available to patients living with XLMTM as rapidly as possible."​Additional information in the full press release may be found on the Audentes website here. Also, as has been their practice, Audentes has shared a letter with our community, which can be read here.​

In 2014, Will had major spinal surgery and although he rocked the surgery, the process to get there seemed so much more challenging and complex then it should be. Much of the coordination to communicate perioperatively with Will’s multiple specialists was on us, his parents. At the time I had been working with a complex care specialist on another project, and began to share the challenges we experienced. He listened and heard the complexities of the process, and he believed that as a universal care system “we” could do better! Dr. Jay Berry was in the process of applying for a multi-institutional grant, which came to be known as “Engineering High Reliability Learning Labs" (EHRLL). Under this grant, medical entities including our team from Boston Children’s Hospital would collaborate with Harvard’s Chan School of Public Health and Northeastern University’s Health Systems Engineering team to create better care processes using systems engineering principles, aiming to improve the quality of health delivery.

Since 2015, our team has been working to improve the process that patients experience when considering, and undergoing, major spine surgery. There are many learnings that have developed out of this work. Today, the team's shared Decision-Making Guide, that we hope may be helpful for patients and families who are considering spinal surgery, was released by our collaborating partners at Courageous Parents Network (CPN). CPN has also worked with our Boston Children’s Hospital team to develop a series of videos that share conversations about the challenges and considerations of complex spine surgery from the perspectives of a parent, complex care physician, and surgeon. We hope that the conversations captured will allow patients and families facing a potential surgery an opportunity to consider how to go through this complex decision making process. We encourage families to partner with their providers and work to develop a personalized care pathway that will be best for their child and family. Please feel free to share with those that might benefit and also please share any feedback as the shared Decision-Making Guide is a living guide, intended to be updated and modified to best serve families and medical professionals partnering with them to provide optimal care.

As we approach our 2017 MTM-CNM Family Conference in Nashville, we are please to share this special guest post written by MTM Dad and Nashville resident Patrick Bowers. Thank you Patrick for sharing this great information!

Five and a half years ago Molly (then 16) made her first trip to Nashville. She came to be part of a Nashville Song Writers International (NSAI) event. NSAI is a songwriters networking, education and lobbying group. Between education and first hand experience writing and performing in town, Molly had written a few songs and was encouraged by some accomplished musicians to explore songwriting further. Molly will tell you that from her first song, she knew it was what she wanted to do and she'll also say much of her inspiration comes from her brother Patrick and the ability he had to touch the lives of so many people. On that first trip and on every trip after that, Molly received more and more attention and was encouraged to relocate here if she wanted to pursue this as a career. Molly asked if we all would consider a move to Nashville and although there was some thought that went into it, the decision seemed to be an easy one for our family. I had retired from Law Enforcement. Carol, a Critical Care Nurse knew her skills could be utilized anywhere. Sophie, our 9 year old, (then 5) was getting ready to start Kindergarten and wanted to be near her sister. However, Sophie holds onto her Connecticut roots refusing to use southern words like "Y’all." :) With that and Molly’s promise that she would get a college education, we moved to Nashville four years ago this month. Molly just graduated in May from Belmont University.

Although it might surprise many newcomers, Nashville also has a lot to offer besides cowboy boots and country music. It truly lives up to its two nicknames. "Music City, USA" might be self explanatory, but many don't know it's other nickname, "The Athens of the South." It even has a full-scale replica of the Parthenon located off of West End in Centennial Park! For families, the Adventure Science Center, the Nashville Zoo, the downtown walking bridge, and the cities parks are great places to visit. For the sports fan, our Preds happened to go to the Stanley Cup this year. How did your team do? We were surprised just how culturally diverse Nashville is with residents from all around the country and the world, in part due to its thriving economy. In fact there are estimates of 100 people a day moving to Nashville. Downtown Nashville has gained national attention with its nightlife and live music that begins at 10am and doesn't end until 4am. While Honky Tonk's, Boot Stores, Buskers, and yes, many Bachelorette Parties line both sides of lower Broadway, yet many Nashville neighborhoods offer so much more.

With neighborhoods like Germantown, The Gulch, 12th Avenue South, Sylvain Park, and Edge Hill there’s a great walk-ability factor and the restaurant scene here rivals any major city in the country. East Nashville is perhaps our favorite with its artistic, musician, and hipster population. Farm to table restaurants like, “Husk” and “City House” live up to their name with local flavor and ingredients. BBQ joints, “Peg Leg Porker”, “Martin’s”, and “Edley’s” are finger licking good! For true Southern cooking, head to “Loveless Café” or “Monell’s”, and of course you can’t leave town without trying Nashville’s famous Hot Chicken. If you’re looking to spice things up, head to “Hattie B’s” or “Princes”.

Nashville has become very progressive, but it has maintained its southern charm and historical significance. The Belle Mead Mansion offers a realistic view of plantation life in the 1800's, and in addition happens to be a winery. With over 700 churches, the largest number of any major city in the U.S., many Nashvillian’s claim it as the buckle of the Bible Belt. The Ryman Auditorium, known as the "Mother Church" of country music, is located just off of Broadway. Its acoustics are unmatched and it is one of the best venues in town. Nashville is also home of Music Row, which is now listed as a historical national landmark. Many songwriters and top musicians make their home here and in fact the recording facilities here, in every genre, are some of the best in the world. You might even see a star you know around town!​ Although our son Patrick had been gone a few years when we attended the first family conference in Houston, we traveled a great deal with Patrick and understand the effort that goes into making a trip like this happen. We’re extremely excited that MTM-CNM Family Connection chose Nashville as this year’s site for the conference and consider ourselves blessed to be a part of such an amazing community. We truly believe that the efforts within the MTM-CNM family can make a difference and we are grateful for all those who have done so much to fight this disease. Welcome to Nashville, Y’all!

The Bowers Family

(If we can assist with any questions, feel free to contact Patrick at pmbowers@sbcglobal.net)

You know about "Music City", but what else do you know about Nashville?

An unparalled experienceIf you’ve been to one of our previous MTM-CNM Family Conferences, you know just how special they are. If you haven’t been yet, here is what some past attendees have said:

“There are no words to say how special this weekend was to us. I feel like a part of our family is now complete because we finally were able to see in person part of our extended family. This weekend was so good for our hearts and soul.” - Natalie, Cooper's mom

“We found our Utopia this weekend in a Best Western Plus in Bloomington, Minnesota at an MTM-CNM Family Conference.” - Hilary, Benjamin's mom

"It's been the most valuable opportunity for me personally and as a scientist to be able to come and learn from the boys and their families." - Dr. Barbara Smith, University of Florida

“I've waited 19 years to feel this way and I will try to never miss this again. To feel the belonging and to talk to others who understand the day to day of my life and "get it" is just great!!!” - Christiann, Jason's mom

“You will never know how much this conference meant to me and my family. It was the most incredible, healing, convalescent experience I have ever taken part in. To be face-to-face with the researchers and have the space to ask questions and hear presentations, was so wonderful and incredible. And of course our families! You gave us the opportunity to meet and share and laugh and cry!” - Maggie, Lincoln's mom

“We attended this conference two summers ago in Chicago Illinois and it was the best experience we ever had. Not only did we get to meet other families like ours our son got to meet other kids like him and feel normal for a change. We also got to listen to doctors and researchers who were studying our son's particular genetic disorder, so it was a great learning opportunity.” - Kimberly, Evan's mom

“It’s hard to describe how important being at the myotubular myopathy conference has been for us and all the other families here this weekend. Sure, there was lots of fascinating and groundbreaking medical research presented to the group as part of the rather remarkable progress that has been made towards a treatment for x-linked MTM. But most importantly for us, being at the conference was about connecting with, sharing, and learning from other families of kids born with MTM.” - Burke and Krista, Lucas's parents

The cost of the ConferenceWhile the value to families and researchers alike is priceless, overall the conference weekend costs us nearly $300 per person. The bulk of the cost of the conference comes from the hotel facilities, meeting space, catering and service, which translates to about $40 per person for each lunch and $60 per person for each dinner. Other expenses include kids activities and supplies and various other related services that make the conference special. This does not include the cost of hotel rooms which are paid by the attendees.

Who pays for it?We are extremely grateful to be lining up a number of generous corporate sponsors again for the 2017 MTM-CNM Family Conference. These are organizations who support our community and our efforts, and have some vested interest in helping to gather as many of us together in one place as possible. Like us, they seek to drive research forward towards effective treatments, and to support families in every stage of dealing with MTM/CNM. We couldn’t do this conference without them.

However, despite their generosity, sponsorships do not cover all the expenses of our conference. After all, this is a family conference, created by families, run by families, and with families at the heart of the whole experience. And we want all families to be able to participate, with as little direct cost to them as possible. Therefore, we make this heartfelt appeal:

We need your help!We are asking each family to help make this conference happen, by raising $500 or more for MTM-CNM Family Connection, by May 1st. If you can raise even more, that would be wonderful. If you can’t raise that much, we are grateful for whatever you can contribute - even if it is just words of support. The more money that we can raise as a community - as a family - the better we will be able to serve each other and continue to make a meaningful difference in the lives of those affected by myotubular and centronuclear myopathy. Let’s make April 2017 a month of amazing MTM-CNM fundraising! May 1st isn’t a hard deadline - our fundraising goes year-round - but we need to have our financial picture clear as we get closer to the conference in July.

If you have the ability to make a $500 or more donation yourself, that is of course welcome, but what we are really hoping for is active participation in some form of fundraising. This helps beyond just the dollars: it gets more people contributing, which means more people involved and aware and joining us in our mission.

How to get started?The simplest way that anyone can get involved in this fundraising is through our partnership with Crowdrise. Go to https://www.crowdrise.com/2017-mtm-cnm-family-conference and click “join the team” to set up your own profile page. It just takes a couple minutes! You can add your own photos and tell your own “story” if you wish, describing what the conference means to you. Then share your page with family and friends to request donations - easy! Just 20 donations of $25 each will get you to the $500 target. The donations are tax-deductible and transactions are handled securely by Crowdrise and Network for Good. If you need any help setting up your page, just ask!

There are a number of other ways to get involved with fundraising, from hosting online product sales (we’ve recently benefited from LuLaRoe, Pampered Chef, Thirty-One, Younique) to 5k runs, yard sales, lemonade stands, “jeans days”, race sponsorships, and whatever else you can think of! If you want to do something but aren’t sure what (or how), feel free to contact us via email or start up a discussion with other families in our closed Facebook Group.

If fundraising falls short of our goals, then we will have to cover more of the costs through registration fees, which we would rather not do since higher costs may make it difficult for some families to attend. So as an additional incentive, we will be offering $100 off registration for every $500 an individual or family raises.

Just do it!The most important thing is to be involved - however you are able. Families, this is our conference. We can’t wait to see you there, and we thank you for helping to make it happen. Let’s do this together!